檢索結果 - Anne-Marie Robréau

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  1. 1
    Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation

    Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type... 由 Sharon D. Whatley, Hervé Puy, Rhian Morgan, Anne-Marie Robréau, Andrew Roberts, Y Nordmann, George H. Elder, Jean‐Charles Deybach

    出版 1999
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  2. 2
    Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria

    Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria 由 Laurent Gouya, Caroline Schmitt, Anne-Marie Robréau, Frédéric Austerlitz, Vasco Da Silva, Patrick Brun, Sylvie Simonin, Saı̈d Lyoumi, Bernard Grandchamp, Carole Beaumont, Hervé Puy, Jean‐Charles Deybach

    出版 2005
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  3. 3
    A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease

    A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease 由 Dimitri Tchernitchko, Quentin Tavernier, J. Lamoril, Caroline Schmitt, Neila Talbi, Saı̈d Lyoumi, Anne-Marie Robréau, Zoubida Karim, Laurent Gouya, Éric Thervet, Alexandre Karras, Hervé Puy, Nicolas Pallet

    出版 2016
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  4. 4
    From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

    From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria 由 Hugo Lenglet, Caroline Schmitt, Thomas Grange, Hana Manceau, Narjesse Karboul, Florian Bouchet-Crivat, Anne-Marie Robréau, Gaël Nicolas, J. Lamoril, Sylvie Simonin, Arienne Mirmiran, Zoubida Karim, Enrique Casalino, Jean‐Charles Deybach, Hervé Puy, Katell Peoc’h, Laurent Gouya

    出版 2018
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  5. 5
    Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans

    Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans 由 Raêd Daher, Caroline Kannengiesser, Dounia Houamel, Thibaud Lefèbvre, Edouard Bardou–Jacquet, Nicolas Ducrot, Caroline de Kerguenec, Anne‐Marie Jouanolle, Anne-Marie Robréau, Claire Oudin, Gérald Le Gac, Boualem Moulouel, V. Loustaud‐Ratti, Pierre Bédossa, Dominique Valla, Laurent Gouya, Carole Beaumont, Pierre Brissot, Hervé Puy, Zoubida Karim, Dimitri Tchernitchko

    出版 2015
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